University of Dundee

Molecular Medicine 2014

Bolling, M. C., Jongbloed, J. D., Boven, L. G., Diercks, G. F., Smith, F. J., McLean, W. H. and Jonkman, M. F. (2014) Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients. The Journal of investigative dermatology. 134, 273-276
doi. 10.1038/jid.2013.277
Pubmed. 23774525

Brough, H. A., Simpson, A., Makinson, K., Hankinson, J., Brown, S., Douiri, A., Belgrave, D. C., Penagos, M., Stephens, A. C., McLean, W. H., Turcanu, V., Nicolaou, N., Custovic, A. and Lack, G. (2014) Peanut allergy: effect of environmental peanut exposure in children with filaggrin loss-of-function mutations. J Allergy Clin Immunol. 134, 867-875 e861
doi. 10.1016/j.jaci.2014.08.011
Pubmed. 25282568

Campbell, P., Morton, P. E., Takeichi, T., Salam, A., Roberts, N., Proudfoot, L. E., Mellerio, J. E., Aminu, K., Wellington, C., Patil, S. N., Akiyama, M., Liu, L., McMillan, J. R., Aristodemou, S., Ishida-Yamamoto, A., Abdul-Wahab, A., Petrof, G., Fong, K., Harnchoowong, S., Stone, K. L., Harper, J. I., McLean, W. H., Simpson, M. A., Parsons, M. and McGrath, J. A. (2014) Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR. The Journal of investigative dermatology. 134, 2570-2578
doi. 10.1038/jid.2014.164
Pubmed. 24691054

Cole, C., Kroboth, K., Schurch, N. J., Sandilands, A., Sherstnev, A., O'Regan, G. M., Watson, R. M., McLean, W. H., Barton, G. J., Irvine, A. D. and Brown, S. J. (2014) Filaggrin-stratified transcriptomic analysis of pediatric skin identifies mechanistic pathways in patients with atopic dermatitis. J Allergy Clin Immunol. 134, 82-91
doi. 10.1016/j.jaci.2014.04.021
Pubmed. 24880632

Courtney, D. G., Atkinson, S. D., Allen, E. H., Moore, J. E., Walsh, C. P., Pedrioli, D. M., MacEwen, C. J., Pellegrini, G., Maurizi, E., Serafini, C., Fantacci, M., Liao, H., Irvine, A. D., McLean, W. H. and Moore, C. B. (2014) siRNA silencing of the mutant keratin 12 allele in corneal limbal epithelial cells grown from patients with Meesmann's epithelial corneal dystrophy. Investigative ophthalmology & visual science. 55, 3352-3360
doi. 10.1167/iovs.13-12957
Pubmed. 24801514

Flohr, C., Perkin, M., Logan, K., Marrs, T., Radulovic, S., Campbell, L. E., Maccallum, S. F., McLean, W. H. and Lack, G. (2014) Atopic dermatitis and disease severity are the main risk factors for food sensitization in exclusively breastfed infants. The Journal of investigative dermatology. 134, 345-350
doi. 10.1038/jid.2013.298
Pubmed. 23867897

Fu, D. J., Thomson, C., Lunny, D. P., Dopping-Hepenstal, P. J., McGrath, J. A., Smith, F. J., McLean, W. H. and Pedrioli, D. M. (2014) Keratin 9 is required for the structural integrity and terminal differentiation of the palmoplantar epidermis. The Journal of investigative dermatology. 134, 754-763
doi. 10.1038/jid.2013.356
Pubmed. 23962810

Hegde, V., Hickerson, R. P., Nainamalai, S., Campbell, P. A., Smith, F. J., McLean, W. H. and Leslie Pedrioli, D. M. (2014) In vivo gene silencing following non-invasive siRNA delivery into the skin using a novel topical formulation. Journal of controlled release : official journal of the Controlled Release Society. 196, 355-362
doi. 10.1016/j.jconrel.2014.10.022
Pubmed. 25449884

Ohguchi, Y., Nomura, T., Suzuki, S., Mizuno, O., Nomura, Y., Nemoto-Hasebe, I., Okamoto, H., Sandilands, A., Akiyama, M., McLean, W. H. and Shimizu, H. (2014) A new filaggrin gene mutation in a Korean patient with ichthyosis vulgaris. European journal of dermatology : EJD. 24, 491-493
doi. 10.1684/ejd.2014.2410
Pubmed. 25115336

Petrof, G., Nanda, A., Howden, J., Takeichi, T., McMillan, J. R., Aristodemou, S., Ozoemena, L., Liu, L., South, A. P., Pourreyron, C., Dafou, D., Proudfoot, L. E., Al-Ajmi, H., Akiyama, M., McLean, W. H., Simpson, M. A., Parsons, M. and McGrath, J. A. (2014) Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. American journal of human genetics. 95, 308-314
doi. 10.1016/j.ajhg.2014.08.001
Pubmed. 25152456

Pohler, E., Huber, M., Boonen, S. E., Zamiri, M., Gregersen, P. A., Sommerlund, M., Ramsing, M., Hohl, D., McLean, W. H. and Smith, F. J. (2014) New and recurrent AAGAB mutations in punctate palmoplantar keratoderma. The British journal of dermatology. 171, 433-436
doi. 10.1111/bjd.12927
Pubmed. 24588319

Schurch, N. J., Cole, C., Sherstnev, A., Song, J., Duc, C., Storey, K. G., McLean, W. H., Brown, S. J., Simpson, G. G. and Barton, G. J. (2014) Improved annotation of 3' untranslated regions and complex loci by combination of strand-specific direct RNA sequencing, RNA-Seq and ESTs. PLoS One. 9, e94270
doi. 10.1371/journal.pone.0094270
Pubmed. 24722185

Simpson, E. L., Chalmers, J. R., Hanifin, J. M., Thomas, K. S., Cork, M. J., McLean, W. H., Brown, S. J., Chen, Z., Chen, Y. and Williams, H. C. (2014) Emollient enhancement of the skin barrier from birth offers effective atopic dermatitis prevention. J Allergy Clin Immunol. 134, 818-823
doi. 10.1016/j.jaci.2014.08.005
Pubmed. 25282563

Thawer-Esmail, F., Jakasa, I., Todd, G., Wen, Y., Brown, S. J., Kroboth, K., Campbell, L. E., O'Regan, G. M., McLean, W. H., Irvine, A. D., Kezic, S. and Sandilands, A. (2014) South African amaXhosa patients with atopic dermatitis have decreased levels of filaggrin breakdown products but no loss-of-function mutations in filaggrin. J Allergy Clin Immunol. 133, 280-282 e281-282
doi. 10.1016/j.jaci.2013.09.053
Pubmed. 24369804

Wilson, N. J., O'Toole, E. A., Milstone, L. M., Hansen, C. D., Shepherd, A. A., Al-Asadi, E., Schwartz, M. E., McLean, W. H., Sprecher, E. and Smith, F. J. (2014) The molecular genetic analysis of the expanding pachyonychia congenita case collection. The British journal of dermatology. 171, 343-355
doi. 10.1111/bjd.12958
Pubmed. 24611874